An update on adult forms of hereditary pheochromocytomas and paragangliomas.
Journal
Current opinion in oncology
ISSN: 1531-703X
Titre abrégé: Curr Opin Oncol
Pays: United States
ID NLM: 9007265
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
pubmed:
14
11
2020
medline:
5
8
2021
entrez:
13
11
2020
Statut:
ppublish
Résumé
Pheochromocytomas and paragangliomas (PPGL) display a strong genetic determinism with 40% of inherited forms. The purpose of this review is to provide an update on current knowledge on adult forms of hereditary PPGL and their management. PPGL are genetically-driven in 70% of cases, with germline and/or somatic mutations identified in more than 20 genes. Although eight new susceptibility genes have recently emerged, mutations on SDHx genes remain the most frequent. In addition to SDHB, mutations in SLC25A11, FH and MDH2 may predispose to a metastatic disease and somatic alterations including TERT and ATRX mutations, and the differential expression on noncoding RNAs are also associated with the occurrence of metastases.The biochemical diagnosis remains the mainstay of functional PPGL and does not differ between hereditary PPGL while the choice of the best nuclear imaging approach is dictated by the tumor type and can be influenced by the presence of a germline mutation (18F-DOPA PET/CT for cluster 2 mutation and Ga-DOTATATE PET/CT for cluster 1 mutation). A systematic genetic testing and counselling is recommended for all PPGL patients and should lead to conservative surgery and an adapted follow up, in case of hereditary form.
Identifiants
pubmed: 33186184
doi: 10.1097/CCO.0000000000000694
pii: 00001622-202101000-00006
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
23-32Références
Tevosian SG, Ghayee HK. Pheochromocytomas and paragangliomas. Endocrinol Metab Clin North Am 2019; 48:727–750.
Thompson LDR, Gill AJ, Asa SL, et al. Dataset for the reporting of pheochromocytoma and paraganglioma: explanations and recommendations of the Guidelines from the International Collaboration on Cancer Reporting (ICCR). Hum Pathol 2020; S0046-8177(20)30084-8.
Cornu E, Belmihoub I, Burnichon N, et al. [Phaeochromocytoma and paraganglioma]. Rev Med Interne 2019; 40:733–741.
Neumann HPH, Bausch B, McWhinney SR, et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002; 346:1459–1466.
Buffet A, Burnichon N, Favier J, et al. An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma. Best Pract Res Clin Endocrinol Metab 2020; 34:101416.
Favier J, Amar L, Gimenez-Roqueplo A-P. Paraganglioma and phaeochromocytoma: from genetics to personalized medicine. Nat Rev Endocrinol 2015; 11:101–111.
Crona J, Lamarca A, Ghosal S, et al. Genotype-phenotype correlations in pheochromocytoma and paraganglioma: a systematic review and individual patient meta-analysis. Endocr Relat Cancer 2019; 26:539–550.
Crona J, Taïeb D, Pacak K. New perspectives on pheochromocytoma and paraganglioma: toward a molecular classification. Endocr Rev 2017; 38:489–515.
Neumann HP, Young WF, Krauss T, et al. 65 YEARS OF THE DOUBLE HELIX: genetics informs precision practice in the diagnosis and management of pheochromocytoma. Endocr Relat Cancer 2018; 25:T201–T219.
Castro-Vega LJ, Letouzé E, Burnichon N, et al. Multiomics analysis defines core genomic alterations in pheochromocytomas and paragangliomas. Nat Commun 2015; 6:6044.
Fishbein L, Leshchiner I, Walter V, et al. Comprehensive molecular characterization of pheochromocytoma and paraganglioma. Cancer Cell 2017; 31:181–193.
Selak MA, Armour SM, MacKenzie ED, et al. Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-α prolyl hydroxylase. Cancer Cell 2005; 7:77–85.
Sciacovelli M, Gonçalves E, Johnson TI, et al. Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition. Nature 2016; 537:544–547.
Job S, Draskovic I, Burnichon N, et al. Telomerase activation and ATRX mutations are independent risk factors for metastatic pheochromocytoma and paraganglioma. Clin Cancer Res 2019; 25:760–770.
van Duinen N, Corssmit EPM, de Jong WHA, et al. Plasma levels of free metanephrines and 3-methoxytyramine indicate a higher number of biochemically active HNPGL than 24-h urinary excretion rates of catecholamines and metabolites. Eur J Endocrinol 2013; 169:377–382.
Toledo RA, Qin Y, Cheng Z-M, et al. Recurrent mutations of chromatin-remodeling genes and kinase receptors in pheochromocytomas and paragangliomas. Clin Cancer Res 2016; 22:2301–2310.
Bausch B, Schiavi F, Ni Y, et al. Clinical characterization of the pheochromocytoma and paraganglioma susceptibility genes SDHA, TMEM127, MAX, and SDHAF2 for gene-informed prevention. JAMA Oncol 2017; 3:1204–1212.
Welander J, Łysiak M, Brauckhoff M, et al. Activating FGFR1 mutations in sporadic pheochromocytomas. World J Surg 2018; 42:482–489.
Dahia P, Clifton-Bligh R, Gimenez-Roqueplo A-P, et al. Metastatic pheochromocytoma and paraganglioma: proceedings of the MEN2019 workshop. Endocr Relat Cancer 2020; 27:T41–T52.
Plouin PF, Amar L, Dekkers OM, et al. European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma. Eur J Endocrinol 2016; 174:G1–G10.
Lenders JWM, Duh Q-Y, Eisenhofer G, et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. J Clin Endocrinol Metab 2014; 99:1915–1942.
Cascón A, Comino-Méndez I, Currás-Freixes M, et al. Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. J Natl Cancer Inst 2015; 107:djv053.
Calsina B, Currás-Freixes M, Buffet A, et al. Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients. Genet Med 2018; 20:1652–1662.
Remacha L, Comino-Méndez I, Richter S, et al. Targeted exome sequencing of krebs cycle genes reveals candidate cancer-predisposing mutations in pheochromocytomas and paragangliomas. Clin Cancer Res 2017; 23:6315–6324.
Buffet A, Morin A, Castro-Vega L-J, et al. Germline mutations in the mitochondrial 2-oxoglutarate/malate carrier SLC25A11 gene confer a predisposition to metastatic paragangliomas. Cancer Res 2018; 78:1914–1922.
Remacha L, Pirman D, Mahoney CE, et al. Recurrent germline DLST mutations in individuals with multiple pheochromocytomas and paragangliomas. Am J Hum Genet 2019; 104:651–664.
Remacha L, Currás-Freixes M, Torres-Ruiz R, et al. Gain-of-function mutations in DNMT3A in patients with paraganglioma. Genet Med 2018; 20:1644–1651.
Welander J, Andreasson A, Juhlin CC, et al. Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma. J Clin Endocrinol Metab 2014; 99:E1352–E1360.
Cascon A, Comino-Mendez I, Curras-Freixes M, et al. Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. J Natl Cancer Inst 2015; 107:
Papathomas TG, Oudijk L, Persu A, et al. SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). Mod Pathol 2015; 28:807–821.
Menara M, Oudijk L, Badoual C, et al. SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma. J Clin Endocrinol Metab 2015; 100:E287–E291.
Castro-Vega LJ, Buffet A, De Cubas AA, et al. Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. Hum Mol Genet 2014; 23:2440–2446.
Udager AM, Magers MJ, Goerke DM, et al. The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes. Hum Pathol 2018; 71:47–54.
Favier J, Meatchi T, Robidel E, et al. Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma-a retrospective and prospective study. Mod Pathol 2020; 33:57–64.
Richter S, Gieldon L, Pang Y, et al. Metabolome-guided genomics to identify mutations in isocitrate dehydrogenase, fumarate hydratase and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. Genet Med 2019; 21:705–717.
Wallace PW, Conrad C, Brückmann S, et al. Metabolomics, machine learning and immunohistochemistry to predict succinate dehydrogenase mutational status in phaeochromocytomas and paragangliomas. J Pathol 2020; 251:378–387.
Imperiale A, Moussallieh FM, Roche P, et al. Metabolome profiling by HRMAS NMR spectroscopy of pheochromocytomas and paragangliomas detects SDH deficiency: clinical and pathophysiological implications. Neoplasia 2015; 17:55–65.
Lussey-Lepoutre C, Bellucci A, Morin A, et al. In vivo detection of succinate by magnetic resonance spectroscopy as a hallmark of SDHx mutations in paraganglioma. Clin Cancer Res 2016; 22:1120–1129.
Lussey-Lepoutre C, Bellucci A, Burnichon N, et al. Succinate detection using in vivo 1H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas. Eur J Nucl Med Mol Imaging 2020; 47:1510–1517.
Urbini M, Nannini M, Astolfi A, et al. Whole exome sequencing uncovers germline variants of cancer-related genes in sporadic pheochromocytoma. Int J Genom 2018; 2018:e6582014 https://www.hindawi.com/journals/ijg/2018/6582014/
Burnichon N, Vescovo L, Amar L, et al. Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Hum Mol Genet 2011; 20:3974–3985.
Ben Aim L, Pigny P, Castro-Vega LJ, et al. Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma. J Med Genet 2019; 56:513–520.
Fishbein L, Khare S, Wubbenhorst B, et al. Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas. Nat Commun 2015; 6:1–6.
Calsina B, Castro-Vega LJ, Torres-Pérez R, et al. Integrative multiomics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma. Theranostics 2019; 9:4946–4958.
Job S, Georges A, Burnichon N, et al. Transcriptome analysis of lncRNAs in pheochromocytomas and paragangliomas. J Clin Endocrinol Metab 2020; 105:898–907.
Zhang J, Cong R, Zhang Q, et al. Integrative analysis of ceRNA network and DNA methylation associated with gene expression in malignant pheochromocytomas: a study based on The Cancer Genome Atlas. Transl Androl Urol 2020; 9:344–354.
Amar L, Bertherat J, Baudin E, et al. Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 2005; 23:8812–8818.
Gimenez-Roqueplo A-P, Favier J, Rustin P, et al. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res 2003; 63:5615–5621.
Morin A, Goncalves J, Moog S, et al. TET-mediated hypermethylation primes SDH-deficient cells for HIF2α-driven mesenchymal transition. Cell Rep 2020; 30:4551–4566.e7.
Liu Y, Pang Y, Zhu B, et al. Therapeutic targeting of SDHB-mutated pheochromocytoma/paraganglioma with pharmacologic ascorbic acid. Clin Cancer Res 2020; 26:3868–3880.
Pang Y, Lu Y, Caisova V, et al. Targeting NAD+/PARP DNA repair pathway as a novel therapeutic approach to SDHB-mutated cluster i pheochromocytoma and paraganglioma. Clin Cancer Res 2018; 24:3423–3432.
Sulkowski PL, Sundaram RK, Oeck S, et al. Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair. Nat Genet 2018; 50:1086–1092.
Sulkowski PL, Oeck S, Dow J, et al. Oncometabolites suppress DNA repair by disrupting local chromatin signalling. Nature 2020; 582:586–591.
Lenders JWM, Kerstens MN, Amar L, et al. Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on endocrine hypertension of the European society of hypertension. J Hypertens 2020; 38:1443–1456.
Sbardella E, Maunsell Z, May CJH, et al. Random ‘spot’ urinary metanephrines compared with 24-h-urinary and plasma results in phaeochromocytomas and paragangliomas. Eur J Endocrinol 2020; 183:129–139.
Sawka AM, Prebtani AP, Thabane L, et al. A systematic review of the literature examining the diagnostic efficacy of measurement of fractionated plasma free metanephrines in the biochemical diagnosis of pheochromocytoma. BMC Endocr Disord 2004; 4:2.
Rao D, Peitzsch M, Prejbisz A, et al. Plasma methoxytyramine: clinical utility with metanephrines for diagnosis of pheochromocytoma and paraganglioma. Eur J Endocrinol 2017; 177:103–113.
Wang EY, Pak JS, Virk RK, et al. Bladder preservation for patients with bladder paragangliomas: case series and review of the literature. Urology 2020; 143:194–205.
Lam AK-Y. Update on adrenal tumours in 2017 World Health Organization (WHO) of endocrine tumours. Endocr Pathol 2017; 28:213–227.
Kimura N, Takekoshi K, Naruse M. Risk stratification on pheochromocytoma and paraganglioma from laboratory and clinical medicine. J Clin Med 2018; 7:242.
Taïeb D, Pacak K. Genetic determinants of pheochromocytoma and paraganglioma imaging phenotypes. J Nucl Med 2020; 61:643–645.
Janssen I, Chen CC, Millo CM, et al. PET/CT comparing (68)Ga-DOTATATE and other radiopharmaceuticals and in comparison with CT/MRI for the localization of sporadic metastatic pheochromocytoma and paraganglioma. Eur J Nucl Med Mol Imaging 2016; 43:1784–1791.
Amar L, Lussey-Lepoutre C, Lenders JWM, et al. Management of endocrine disease: recurrence or new tumors after complete resection of pheochromocytomas and paragangliomas: a systematic review and meta-analysis. Eur J Endocrinol 2016; 175:R135–145.
Gartland RM, Fuentes E, Fazendin J, et al. Safety of outpatient adrenalectomy across 3 minimally invasive approaches at 2 academic medical centers. Surgery 2020; S0039-6060(20)30170-7.
Hescot S, Curras-Freixes M, Deutschbein T, et al. Prognosis of malignant pheochromocytoma and paraganglioma (MAPP-Prono Study): a european network for the study of adrenal tumors retrospective study. J Clin Endocrinol Metab 2019; 104:2367–2374.
O’Kane GM, Ezzat S, Joshua AM, et al. A phase 2 trial of sunitinib in patients with progressive paraganglioma or pheochromocytoma: the SNIPP trial. Br J Cancer 2019; 120:1113–1119.
Toledo RA. New HIF2α inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas. Endocr Relat Cancer 2017; 24:C9–C19.
Niemeijer ND, Alblas G, van Hulsteijn LT, et al. Chemotherapy with cyclophosphamide, vincristine and dacarbazine for malignant paraganglioma and pheochromocytoma: systematic review and meta-analysis. Clin Endocrinol (Oxf) 2014; 81:642–651.
Hadoux J, Favier J, Scoazec J-Y, et al. SDHB mutations are associated with response to temozolomide in patients with metastatic pheochromocytoma or paraganglioma. Int J Cancer 2014; 135:2711–2720.
Buffet A, Ben Aim L, Leboulleux S, et al. Positive impact of genetic test on the management and outcome of patients with paraganglioma and/or pheochromocytoma. J Clin Endocrinol Metab 2019; 104:1109–1118.
Amar L, Baudin E, Burnichon N, et al. Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. J Clin Endocrinol Metab 2007; 92:3822–3828.
King KS, Prodanov T, Kantorovich V, et al. Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations. J Clin Oncol 2011; 29:4137–4142.